ANG — 116 ClinVar variants
All ClinVar germline ANG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
6 Pathogenic · 1 Likely pathogenic · 6 Conflicting · 11 Benign · 5 Benign/Likely benign · 22 Likely benign · 65 Uncertain significance
Full ANG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ANG p.Ser52Asn
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 9
-
ANG p.Arg55Lys
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 9
-
ANG p.Lys41Glu
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 9
-
ANG p.Val137Ile
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 9
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ANG p.Ala122Val
Conflicting
Single submitter
amyotrophic lateral sclerosis type 9
- ANG p.Arg145His Conflicting Single submitter
-
ANG p.Ile70Val
Conflicting
Single submitter
amyotrophic lateral sclerosis type 9
-
ANG p.Lys41Ile
Conflicting
Single submitter
amyotrophic lateral sclerosis type 9
-
ANG p.Pro136Leu
Conflicting
Single submitter
ANG-related disorder
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ANG p.Arg57Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANG p.Arg75His
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 9
-
ANG p.Asn85His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANG p.Gln43His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANG p.Gly123Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANG p.Gly15Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ANG p.Lys78Glu Uncertain significance Multiple submitters
- ANG p.Pro21Ser Uncertain significance Multiple submitters
-
ANG p.Val13Ala
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 9
-
ANG p.Ala120Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ANG p.Arg125Lys Uncertain significance Single submitter
- ANG p.Arg75Ser Uncertain significance Single submitter
- ANG p.Asn67Asp Uncertain significance Single submitter
- ANG p.Asn87Lys Uncertain significance Single submitter
- ANG p.Cys63Arg Uncertain significance Single submitter
- ANG p.Gln117Glu Uncertain significance Single submitter
- ANG p.Gly44Ser Uncertain significance Single submitter
- ANG p.His138Pro Uncertain significance Single submitter
-
ANG p.His32Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ANG p.His37Arg Uncertain significance Single submitter
- ANG p.His37Asn Uncertain significance Single submitter
-
ANG p.His71Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ANG p.Ile95Val Uncertain significance Single submitter
- ANG p.Lys78Arg Uncertain significance Single submitter
- ANG p.Phe124Ile Uncertain significance Single submitter
-
ANG p.Pro136Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANG p.Pro42Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANG p.Ser76Asn Uncertain significance Single submitter
-
ANG p.Thr104Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANG p.Tyr49Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 9
- ANG p.Val127Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
-
ANG p.Arg145Cys
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 9
-
ANG p.Pro21Leu
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 9
- ANG p.Arg119Leu Uncertain significance Single submitter
- ANG p.Arg146Cys Uncertain significance Single submitter
- ANG p.Arg29Gly Uncertain significance Single submitter
- ANG p.Arg45Trp Uncertain significance Single submitter
- ANG p.Arg55Ser Uncertain significance Single submitter
- ANG p.Arg57Gln Uncertain significance Single submitter
- ANG p.Arg57Trp Uncertain significance Single submitter
- ANG p.Asn67Ser Uncertain significance Single submitter
- ANG p.Asp140Asn Uncertain significance Single submitter
- ANG p.Asp46Gly Uncertain significance Single submitter
- ANG p.Asp65Asn Uncertain significance Single submitter
- ANG p.Gln101Pro Uncertain significance Single submitter
- ANG p.His32Tyr Uncertain significance Single submitter
- ANG p.Leu18Gln Uncertain significance Single submitter
- ANG p.Leu9Phe Uncertain significance Single submitter
-
ANG p.Pro114Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANG p.Tyr38Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANG p.Arg119Gln
Uncertain significance
No assertion criteria
ANG-related disorder
-
ANG p.Gln36Leu
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 9
All ANG variants
Pathogenic 6
- p.Arg55Lys No assertion criteria amyotrophic lateral sclerosis type 9 ⚠
- p.Cys63Trp No assertion criteria amyotrophic lateral sclerosis type 9
- p.Gln36Leu No assertion criteria amyotrophic lateral sclerosis type 9 ⚠
- p.Lys41Glu No assertion criteria amyotrophic lateral sclerosis type 9 ⚠
- p.Lys64Ile No assertion criteria amyotrophic lateral sclerosis type 9
- p.Val137Ile No assertion criteria amyotrophic lateral sclerosis type 9 ⚠
Likely pathogenic 1
- p.Ser52Asn Single submitter amyotrophic lateral sclerosis type 9 ⚠
Conflicting classifications of pathogenicity 6
- p.Ala122Val Single submitter amyotrophic lateral sclerosis type 9 ⚠
- p.Arg145His Single submitter ⚠
- p.Ile70Val Single submitter amyotrophic lateral sclerosis type 9 ⚠
- p.Lys41Ile Single submitter amyotrophic lateral sclerosis type 9 ⚠
- p.Met1Ile Single submitter amyotrophic lateral sclerosis type 9
- p.Pro136Leu Single submitter ANG-related disorder ⚠
Benign 11
- c.-18-222G>C Multiple submitters
- c.-237A>C Multiple submitters amyotrophic lateral sclerosis type 9
- c.-332C>A Multiple submitters amyotrophic lateral sclerosis type 9
- c.-530T>C Multiple submitters amyotrophic lateral sclerosis type 9
- c.-534C>T Multiple submitters amyotrophic lateral sclerosis type 9
- c.-579G>C Multiple submitters amyotrophic lateral sclerosis type 9
- p.Lys84Glu Multiple submitters amyotrophic lateral sclerosis type 9
- c.-18-321T>G Single submitter
- c.-18-325A>G Single submitter
- c.-383C>G Single submitter amyotrophic lateral sclerosis type 9
- c.-423C>T Single submitter amyotrophic lateral sclerosis type 9
Benign/Likely benign 5
- p.Gly110= Multiple submitters Inborn genetic diseases
- p.Gly44= Multiple submitters Inborn genetic diseases
- p.Phe33= Multiple submitters amyotrophic lateral sclerosis type 9
- p.Pro21Gln Multiple submitters amyotrophic lateral sclerosis type 9
- p.Thr121= Multiple submitters amyotrophic lateral sclerosis type 9
Likely benign 22
- p.Pro147= Multiple submitters amyotrophic lateral sclerosis type 9
- c.-18-76G>A Single submitter
- c.-19+11A>C Single submitter amyotrophic lateral sclerosis type 9
- c.*10C>T Single submitter amyotrophic lateral sclerosis type 9
- c.*139A>G Single submitter amyotrophic lateral sclerosis type 9
- c.*4G>A Single submitter
- p.Ala122= Single submitter
- p.Arg55= Single submitter
- p.Arg57= Single submitter Inborn genetic diseases
- p.Arg75Gly Single submitter Inborn genetic diseases
- p.Asn126= Single submitter
- p.Asp47= Single submitter
- p.Cys131= Single submitter
- p.Gly6= Single submitter Inborn genetic diseases
- p.His32= Single submitter
- p.His37= Single submitter
- p.Phe12= Single submitter Inborn genetic diseases
- p.Pro115= Single submitter
- p.Ser111= Single submitter
- p.Thr35= Single submitter
- c.-10G>T No assertion criteria ANG-related disorder
- p.Gly58= No assertion criteria ANG-related disorder
Uncertain significance 65
- p.Arg145Cys Multiple submitters amyotrophic lateral sclerosis type 9 ⚠
- p.Arg57Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg75His Multiple submitters amyotrophic lateral sclerosis type 9 ⚠
- p.Asn85His Multiple submitters Inborn genetic diseases ⚠
- p.Gln43His Multiple submitters Inborn genetic diseases ⚠
- p.Gly123Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly15Ser Multiple submitters Inborn genetic diseases ⚠
- p.Lys78Glu Multiple submitters ⚠
- p.Pro21Leu Multiple submitters amyotrophic lateral sclerosis type 9 ⚠
- p.Pro21Ser Multiple submitters ⚠
- p.Val13Ala Multiple submitters amyotrophic lateral sclerosis type 9 ⚠
- c.-115G>C Single submitter amyotrophic lateral sclerosis type 9
- c.-168A>G Single submitter amyotrophic lateral sclerosis type 9
- c.-18-4G>A Single submitter amyotrophic lateral sclerosis type 9
- c.-381C>T Single submitter amyotrophic lateral sclerosis type 9
- c.-524G>A Single submitter amyotrophic lateral sclerosis type 9
- c.-542G>A Single submitter amyotrophic lateral sclerosis type 9
- c.-594C>A Single submitter amyotrophic lateral sclerosis type 9
- c.*81A>C Single submitter amyotrophic lateral sclerosis type 9
- p.Ala120Asp Single submitter Inborn genetic diseases ⚠
- p.Ala40fs Single submitter
- p.Arg119Leu Single submitter ⚠
- p.Arg125Lys Single submitter ⚠
- p.Arg146Cys Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg45Trp Single submitter ⚠
- p.Arg55Ser Single submitter ⚠
- p.Arg57Gln Single submitter ⚠
- p.Arg57Trp Single submitter ⚠
- p.Arg75Ser Single submitter ⚠
- p.Asn67Asp Single submitter ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asn87Lys Single submitter ⚠
- p.Asp140Asn Single submitter ⚠
- p.Asp46Gly Single submitter ⚠
- p.Asp65Asn Single submitter ⚠
- p.Cys63Arg Single submitter ⚠
- p.Gln101Pro Single submitter ⚠
- p.Gln117Glu Single submitter ⚠
- p.Gln25Ter Single submitter
- p.Gly109fs Single submitter amyotrophic lateral sclerosis
- p.Gly44Ser Single submitter ⚠
- p.His138Pro Single submitter ⚠
- p.His32fs Single submitter
- p.His32Gln Single submitter Inborn genetic diseases ⚠
- p.His32Tyr Single submitter ⚠
- p.His37Arg Single submitter ⚠
- p.His37Asn Single submitter ⚠
- p.His71Asn Single submitter Inborn genetic diseases ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu14_Gly15insValLeu Single submitter
- p.Leu18Gln Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys78Arg Single submitter ⚠
- p.Phe124Ile Single submitter ⚠
- p.Pro114Thr Single submitter Inborn genetic diseases ⚠
- p.Pro136Ser Single submitter Inborn genetic diseases ⚠
- p.Pro20_Pro21insThrPro Single submitter
- p.Pro42Leu Single submitter Inborn genetic diseases ⚠
- p.Ser76Asn Single submitter ⚠
- p.Thr104Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr38Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr49Ser Single submitter amyotrophic lateral sclerosis type 9 ⚠
- p.Val127Ile Single submitter ⚠
- p.Arg119Gln No assertion criteria ANG-related disorder ⚠